Cytochrom P450 1B1
Das CYP1B1-Gen kodiert ein Cytochrom P450 Enzym. Mutationen sind für autosomal rezessive Augenerkrankungen wie die Peters-Anomalie und das Glaukom 3A verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Vincent AL et al. (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
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2. |
Stoilov I et al. (1998) Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.
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3. |
Tang YM et al. (1996) Isolation and characterization of the human cytochrome P450 CYP1B1 gene.
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4. |
Sutter TR et al. (1994) Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.
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5. |
Schwartzman ML et al. (1987) 12(R)-hydroxyicosatetraenoic acid: a cytochrome-P450-dependent arachidonate metabolite that inhibits Na+,K+-ATPase in the cornea.
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6. |
Chavarria-Soley G et al. (2008) Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
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7. |
Tsuchiya Y et al. (2006) MicroRNA regulates the expression of human cytochrome P450 1B1.
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8. |
Ming JE et al. (2002) Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
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9. |
Vincent A et al. (2001) Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
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10. |
Hanna IH et al. (2000) Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity.
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11. |
Sivadorai P et al. (2008) Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
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12. |
Melki R et al. (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
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13. |
Belmouden A et al. (2002) A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.
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14. |
Bejjani BA et al. (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
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15. |
Plásilová M et al. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
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16. |
Bejjani BA et al. (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
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17. |
Stoilov I et al. (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.
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18. |
Libby RT et al. (2003) Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.
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19. |
Orphanet article
Orphanet ID 120977
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20. |
NCBI article
NCBI 1545
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21. |
OMIM.ORG article
Omim 601771
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Update: 14. August 2020